Fig. 3From: Genetic epidemiology approach to estimating birth incidence and current disease prevalence for rhizomelic chondrodysplasia punctataCoding variants affecting GNPAT identified in TOPmed and gnomad, non-Finnish European datasets. Known and predicted pathogenic variants were identified in both TOPmed and gnomad-NFE datasets. The expected impact to amino acid sequence is denoted by (□) frameshift, (◊) stop gained and (○) missense. The color scheme indicates the allele frequency found in the respective datasetBack to article page